RGD Reference Report - Autosomal recessive familial exudative vitreoretinopathy is associated with mutations in LRP5. - Rat Genome Database

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Autosomal recessive familial exudative vitreoretinopathy is associated with mutations in LRP5.

Authors: Jiao, X  Ventruto, V  Trese, MT  Shastry, BS  Hejtmancik, JF 
Citation: Jiao X, etal., Am J Hum Genet. 2004 Nov;75(5):878-84. Epub 2004 Sep 2.
RGD ID: 1599835
Pubmed: PMID:15346351   (View Abstract at PubMed)
PMCID: PMC1182117   (View Article at PubMed Central)
DOI: DOI:10.1086/425080   (Journal Full-text)

Familial exudative vitreoretinopathy (FEVR) is a hereditary eye disorder that affects both the retina and vitreous body. Autosomal recessive FEVR was diagnosed in multiple individuals from three consanguineous families of European descent. A candidate-locus-directed genome scan shows linkage to the region on chromosome 11q flanked by markers D11S905 and D11S1314. The maximum LOD score of 3.6 at theta =0 is obtained with marker D11S987. Haplotype analysis confirms that the critical region is the 22-cM (311-Mb) interval flanked by markers D11S905 and D11S1314. This region contains LRP5 but not FZD4; mutations in both of these genes cause autosomal dominant FEVR. Sequencing of LRP5 shows, in all three families, homozygous mutations R570Q, R752G, and E1367K. This suggests that mutations in this gene can cause autosomal recessive as well as autosomal dominant FEVR.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
neovascular inflammatory vitreoretinopathy  IAGP 1599835DNA:mutations: :p.R570Q more ...RGD 
neovascular inflammatory vitreoretinopathy  ISOLRP5 (Homo sapiens)1599835; 1599835DNA:mutations: :p.R570Q more ...RGD 

Objects Annotated

Genes (Rattus norvegicus)
Lrp5  (LDL receptor related protein 5)

Genes (Mus musculus)
Lrp5  (low density lipoprotein receptor-related protein 5)

Genes (Homo sapiens)
LRP5  (LDL receptor related protein 5)


Additional Information